• Gene id: 91646

Gene Summary

• Gene Symbol: TDRD12   Gene   UCSC   Ensembl
• Aliases: ECAT8
• Gene name: tudor domain containing 12
• Alternate names: putative ATP-dependent RNA helicase TDRD12, ES cell associated transcript 8, ES cell-associated transcript 8 protein, tudor domain-containing protein 12,
• Gene location: 19q13.11 (32719766: 32829579)     Exons: 33     NC_000019.10

Protein Summary

• Protein general information: Q587J7  
  • Name: Putative ATP dependent RNA helicase TDRD12 (EC 3.6.4.13) (ES cell associated transcript 8 protein) (Tudor domain containing protein 12)
  • Length: 1177  
  • Mass: 132578
• Sequence:

  MLQLLVLKIEDPGCFWVIIKGCSPFLDHDVDYQKLNSAMNDFYNSTCQDIEIKPLTLEEGQVCVVYCEELKCWCR
  AIVKSITSSADQYLAECFLVDFAKNIPVKSKNIRVVVESFMQLPYRAKKFSLYCTKPVTLHIDFCRDSTDIVPAK
  KWDNAAIQYFQNLLKATTQVEARLCAVEEDTFEVYLYVTIKDEKVCVNDDLVAKNYACYMSPTKNKNLDYLEKPR
  LNIKSAPSFNKLNPALTLWPMFLQGKDVQGMEDSHGVNFPAQSLQHTWCKGIVGDLRPTATAQDKAVKCNMDSLR
  DSPKDKSEKKHHCISLKDTNKRVESSVYWPAKRGITIYADPDVPEASALSQKSNEKPLRLTEKKEYDEKNSCVKL
  LQFLNPDPLRADGISDLQQLQKLKGLQPPVVVLRNKIKPCLTIDSSPLSADLKKALQRNKFPGPSHTESYSWPPI
  ARGCDVVVISHCESNPLLYLLPVLTVLQTGACYKSLPSRNGPLAVIVCPGWKKAQFIFELLGEYSMSSRPLHPVL
  LTIGLHKEEAKNTKLPRGCDVIVTTPYSLLRLLACQSLLFLRLCHLILDEVEVLFLEANEQMFAILDNFKKNIEV
  EERESAPHQIVAVGVHWNKHIEHLIKEFMNDPYIVITAMEEAALYGNVQQVVHLCLECEKTSSLLQALDFIPSQA
  QKTLIFTCSVAETEIVCKVVESSSIFCLKMHKEMIFNLQNVLEQWKKKLSSGSQIILALTDDCVPLLAITDATCV
  IHFSFPASPKVFGGRLYCMSDHFHAEQGSPAEQGDKKAKSVLLLTEKDASHAVGVLRYLERADAKVPAELYEFTA
  GVLEAKEDKKAGRPLCPYLKAFGFCKDKRICPDRHRINPETDLPRKLSSQALPSFGYIKIIPFYILNATNYFGRI
  VDKHMDLYATLNAEMNEYFKDSNKTTVEKVEKFGLYGLAEKTLFHRVQVLEVNQKEDAWALDDILVEFIDEGRTG
  LVTRDQLLHLPEHFHTLPPQAVEFIVCRVKPADNEIEWNPKVTRYIHHKIVGKLHDAKVILALGNTVWIDPMVHI
  TNLSSLKTSVIDYNVRAEILSMGMGIDNPEHIEQLKKLREDAKIPACEESLSQTPPRVTGTSPAQDQDHPSEEQG
  GQGTPPAEDAACLQSPQPEDTGAEGGAESKTSSENQKPGGYLVFKRWLSSNR

• Structural information:
  • Protein Domains: (56..11-)
    (/note="Tudor-1)
    (447..63-)
    (/note="Helicase-ATP-binding)
    (900..99-)
    (/note="Tudor-2")
  • Interpro: IPR011545  IPR027417  IPR035437  IPR002999  
  • STRING: ENSP00000390621
• Other Databases: GeneCards:  TDRD12  Malacards:  TDRD12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0009566	fertilization	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007140	male meiotic nuclear division	ISS	biological process
GO:1990923	PET complex	ISS	cellular component
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq